Canonical Allele Identifier: CA413499283
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543927

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223715G>A , CM000685.2:g.71223715G>A GRCh38
NC_000023.10:g.70443565G>A , CM000685.1:g.70443565G>A GRCh37
NC_000023.9:g.70360290G>A NCBI36
NG_008357.1:g.13504G>A , LRG_245:g.13504G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361726.7:c.8G>A MANE Select ENSP00000354900.6:p.Trp3Ter
ENST00000374029.2:c.8G>A ENSP00000363141.1:p.Trp3Ter
ENST00000447581.2:c.8G>A ENSP00000407223.2:p.Trp3Ter
ENST00000645009.2:c.8G>A ENSP00000494142.2:p.Trp3Ter
ENST00000646835.1:c.8G>A ENSP00000494596.1:p.Trp3Ter
ENST00000647424.1:c.8G>A ENSP00000495960.1:p.Trp3Ter
ENST00000674549.1:c.8G>A ENSP00000502766.1:p.Trp3Ter
ENST00000674844.1:c.8G>A ENSP00000502556.1:p.Trp3Ter
ENST00000675209.1:c.8G>A ENSP00000501813.1:p.Trp3Ter
ENST00000675368.1:c.8G>A ENSP00000501757.1:p.Trp3Ter
ENST00000675609.1:c.8G>A ENSP00000501571.1:p.Trp3Ter
ENST00000361726.6:c.8G>A ENSP00000354900.6:p.Trp3Ter
ENST00000374022.3:c.8G>A ENSP00000363134.3:p.Trp3Ter
ENST00000374029.1:c.8G>A ENSP00000363141.1:p.Trp3Ter
ENST00000447581.1:c.8G>A ENSP00000407223.1:p.Trp3Ter
NM_000166.5:c.8G>A NP_000157.1:p.Trp3Ter
NM_001097642.2:c.8G>A , LRG_245t1:c.8G>A NP_001091111.1:p.Trp3Ter
XM_011530907.1:c.8G>A XP_011529209.1:p.Trp3Ter
XM_011530907.2:c.8G>A XP_011529209.1:p.Trp3Ter
NM_000166.6:c.8G>A MANE Select NP_000157.1:p.Trp3Ter
NM_001097642.3:c.8G>A NP_001091111.1:p.Trp3Ter